PKU can be caused by a lot of different mutations in the PAH gene, with the resu
ID: 146637 • Letter: P
Question
PKU can be caused by a lot of different mutations in the PAH gene, with the result that some cases are e severe than others. "Classic" PKU is caused by mutations such as R408W and RIIIX which lead to complete absence of enzyme activity. "Variant" PKU occurs when there is some enzyme activity and is much milder than the classic type. V177M and P314L are of this type. Some newer treatments for PKU are now in clinical trials. For each of the following, please state whether you think the treatment would be helpful for classic PKU, variant PKU or both. Explain very bricfly Treatment: a. Injection with the enzyme phenylalanine ammonia lyase. This is a plant enzyme that converts phenylalanine to harmless compounds that are easily excreted from the body Supplement diet with the vitamin BH4 (tetrahydrobiopterin). This vitamin enhances the activity of the PAH enzyme. b. Dietary supplements of large neutral amino acids (LNAA). These into the brain and nervous tissue. compete with phenylalanine for entry e.Explanation / Answer
PKU is a birth defect that causes an amino acid called phenylalanine to build up in your body. Phenylketonuria is caused by a mutation in a gene that helps create the enzyme needed to break down phenylalanine. Amino acids are the building blocks for protein, but too much phenylalanine can cause a variety of health problems. People with phenylketonuria (PKU) — babies, children and adults — need to follow a diet that limits phenylalanine, which is found mostly in foods that contain protein. Phenylketonuria (PKU) is a rare condition in which a baby is born without the ability to properlybreak down an amino acid called phenylalanine.
A.yes we can use phenylalanine ammonia lyase(PAL) to treat PKU. PAL acts by converting phenylalanine(phe) into a metabolically inert substance called trans-cinnamic acid and trace amounts of ammonia. trans-Cinnamic acid is then converted to benzoic acid, which is renally excreted as hippurate. The enzyme does not use any cofactor.
B.Diet with BH4 will surely aid in patients with PKU.BH4 will help break down the excess buildup of phenylalanine in the body . BH4 can help the PAH enzyme change phenylalanine into tyrosine. The diet has to be strict; it requires close supervision by a registered dietitian or doctor.
C.LNAA supplementation may have a secondary effect by lowering blood Phe concentrations.Generally, the use of LNAA supplements is mainly considered in older patients who are unable to maintain dietary adherence.
Related Questions
Navigate
Integrity-first tutoring: explanations and feedback only — we do not complete graded work. Learn more.